• 한국임상수의학회지
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• 제41권2호
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• pp.101-105
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• 2024

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder in dogs and cats and has been mostly reported in purebred cats. In this study, we report a case of a 1-year-old castrated male Korean shorthair cat, who presented with multiple small skin tears and bruises distributed over the entire trunk area. The cat's skin was hyperextensible and easily torn with gentle touch. The skin extensibility index of the cat was 25%, indicating the possibility of EDS. The cat exhibited no signs of pruritus or inflammation, and no underlying disease was found. However, radiography revealed hip joint subluxation and arthritis. Following this, biopsy of the lacerated skin was performed. Histopathological examination of the skin revealed that in the dermis adjacent to the lesions, the collagen fibers were irregular in size and width, with a slightly thinner epidermis, and increased interfibrillar spaces containing low numbers of scattered well-differentiated fibroblasts and mast cells. Histopathological examination of the skin confirmed EDS. The symptoms observed in the cat, including skin hyperextensibility, multiple bruising, hip joint subluxation, and arthritis, corresponded to the classical subtype of EDS in humans. Thus, this study is a rare report of a classical EDS case in a Korean shorthair cat. This study suggests that skin extensibility index and biopsy are useful diagnostic procedures for confirming EDS in animals until a more definitive genetic test is established.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Clinical and Experimental Pediatrics
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• 제54권11호
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• pp.473-476
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• 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

• BMB Reports
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• 제52권4호
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• pp.250-258
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• 2019

Parkinson's disease (PD) is a common neurodegenerative disorder characterized by selective and progressive loss of dopaminergic neurons. Genetic and environmental risk factors are associated with this disease. The genetic factors are composed of approximately 20 genes, such as SNCA, parkin, PTEN-induced kinase1 (pink1), leucine-rich repeat kinase 2 (LRRK2), ATP13A2, MAPT, VPS35, and DJ-1, whereas the environmental factors consist of oxidative stress-induced toxins such as 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP), rotenone, and paraquat. The analyses of their functions and mechanisms have provided important insights into the disease process, which has demonstrated that these factors cause oxidative damage and mitochondrial dysfunction. The most invaluable studies have been performed using disease model organisms, such as mice, fruit flies, and worms. Among them, Drosophila melanogaster has emerged as an excellent model organism to study both environmental and genetic factors and provide insights to the pathways relevant for PD pathogenesis, facilitating development of therapeutic strategies. In this review, we have focused on the fly model organism to summarize recent progress, including pathogenesis, neuroprotective compounds, and newer approaches.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• BMB Reports
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• 제49권9호
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• pp.457-458
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• 2016

Recent studies have strongly implicated postsynaptic scaffolding proteins such as SAPAP3 or Shank3 in the pathogenesis of various mood disorders, including autism spectrum disorder, bipolar disorder (BD), and obsessive-compulsive disorders. Neural Abelson-related gene-binding protein 2 (nArgBP2) was originally identified as a protein that interacts with SAPAP3 and Shank3. Recent study shows that the genetic deletion of nArgBP2 in mice leads to manic/bipolar-like behavior resembling symptoms of BD. However, the function of nArgBP2 at synapse, or its connection with the synaptic dysfunctions, is completely unknown. This study provides compelling evidence that nArgBP2 regulates the spine morphogenesis through the activation of Rac1/WAVE/PAK/cofilin pathway, and that its ablation causes a robust and selective inhibition of excitatory synapse formation, by controlling actin dynamics. Our results revealed the underlying mechanism for the synaptic dysfunction caused by nArgBP2 downregulation that associates with analogous human BD. Moreover, since nArgBP2 interacts with key proteins involved in various neuropsychiatric disorders, our finding implies that nArgBP2 could function as a hub linking various etiological factors of different mood disorders.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권2호
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• pp.137-140
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• 2016

Spinal muscular atrophy (SMA) is an autosomal recessive, severe neuromuscular disorder in which degeneration of alpha motor neurons in the spine progressively weakens and ultimately paralyzes the proximal muscles. It occurs in one per 6,000-10,000 infants, and is a genetic disorder with the second-highest mortality rate worldwide. An 18-year-old male patient with SMA was referred for general anesthesia for difficulty in performing dental treatment due to limited mouth opening caused by temporomandibular joint (TMJ) pain. However, the patient had a high risk of general anesthesia complications, so TMJ pain during mouth opening was reduced through local anesthesia of the TMJ. Fortunately, the anesthesia was successful in reducing pain during mouth opening, enabling the patient to receive dental treatment with an adequate mouth opening.

• BMB Reports
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• 제52권7호
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• pp.424-433
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• 2019

Autism spectrum disorder (ASD) is a complex neurodevelopmental monogenic disorder with a strong genetic influence. Idiopathic autism could be defined as a type of autism that does not have a specific causative agent. Among signalling cascades, mTOR signalling pathway plays a pivotal role not only in cell cycle, but also in protein synthesis and regulation of brain homeostasis in ASD patients. The present review highlights, underlying mechanism of mTOR and its role in altered signalling cascades as a triggering factor in the onset of idiopathic autism. Further, this review discusses how distorted mTOR signalling pathway stimulates truncated translation in neuronal cells and leads to downregulation of protein synthesis at dendritic spines of the brain. This review concludes by suggesting downstream regulators such as p70S6K, eIF4B, eIF4E of mTOR signalling pathway as promising therapeutic targets for idiopathic autistic individuals.

• 대한골관절종양학회지
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• 제10권1호
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• pp.50-55
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• 2004

진행성 골화성 섬유이형성증은 매우 드문 유전적 질환이기는 하나 영유아 초기에 경부나 두부의 종괴에 동반하여 나타나는 특징적인 양측성의 족부 모지의 선천성 기형으로 진단이 가능하다. 그러나 오진으로 인한 잘못된 치료와 그로 인한 합병증이 병의 진행을 더 악화시킬 수 있으며 불필요한 처치를 행할 수 있어 처음 진단에 주의를 요하는 질환이다. 이에 저자는 이질환의 자연적 경과와 더불어 잘못된 치료로 인해 발생한 성인에서의 양상을 보고하는 바이다.

• 수면정신생리
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• 제20권2호
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• pp.53-58
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• 2013

Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and restricted, repetitive patterns of behavior and interest. Sleep problems are not uncommon in children with autism spectrum disorders. Symptoms of insomnia are the most frequent sleep problems in individuals with ASD. Sleep problems can cause significant difficulties in the daily life of children with ASD and their families. Genetic factor, deregulations of melatonin synthesis, extraneous environmental stimuli and psychiatric and medical conditions may cause sleep problems. The first line treatment of sleep problems in ASD includes managements for potential contributing factors and parent education about sleep hygiene care for child and behavioral therapy. Supplementation with melatonin may be effective before considering other medications, such as risperidone, clonidine, and mirtazapine.